ClinVar Miner

List of variants in gene LZTR1 reported as pathogenic by GeneDx

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter) rs150419186 0.00010
NM_006767.4(LZTR1):c.1943-256C>T rs761685529 0.00009
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) rs149850248 0.00005
NM_006767.4(LZTR1):c.1785+1G>A rs145594158 0.00001
NM_006767.4(LZTR1):c.465C>G (p.Tyr155Ter) rs753295968 0.00001
NM_006767.4(LZTR1):c.485G>A (p.Trp162Ter) rs1458120855 0.00001
NM_006767.4(LZTR1):c.594-2A>G rs1374011263 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) rs797045165 0.00001
NM_006767.4(LZTR1):c.993+1G>A rs770368435 0.00001
NM_006767.4(LZTR1):c.1030del (p.Ser344fs) rs1555928249
NM_006767.4(LZTR1):c.1149+1G>A rs767191322
NM_006767.4(LZTR1):c.1653C>G (p.Tyr551Ter)
NM_006767.4(LZTR1):c.180C>A (p.Cys60Ter) rs766446110
NM_006767.4(LZTR1):c.1974C>G (p.Tyr658Ter) rs939793375
NM_006767.4(LZTR1):c.2325+1G>A
NM_006767.4(LZTR1):c.352dup (p.Arg118fs) rs1486960809
NM_006767.4(LZTR1):c.570del (p.Phe190fs)
NM_006767.4(LZTR1):c.652-2A>C
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006767.4(LZTR1):c.743G>C (p.Gly248Ala)
NM_006767.4(LZTR1):c.851G>A (p.Arg284His) rs768361273
NM_006767.4(LZTR1):c.993+1G>T rs770368435

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